Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81591388G>T , CM000665.2:g.81591388G>T | GRCh38 |
| NC_000003.11:g.81640539G>T , CM000665.1:g.81640539G>T | GRCh37 |
| NC_000003.10:g.81723229G>T | NCBI36 |
| NG_011810.1:g.175413C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000158.4:c.1109-224C>A MANE Select | NP_000149.4:n.1109-224C>A |
| ENST00000429644.7:c.1109-224C>A MANE Select | ENSP00000410833.2:n.1109-224C>A |
| NM_000158.3:c.1109-224C>A | NP_000149.3:n.1109-224C>A |
| ENST00000429644.6:c.1109-224C>A | ENSP00000410833.2:n.1109-224C>A |
| ENST00000489715.1:c.986-224C>A | ENSP00000419638.1:n.986-224C>A |